E38A (p.Glu38Ala) variant of FANCA (Fanconi anemia group A protein)
E38A (p.Glu38Ala) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Fanconi anemia; Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E38A (p.Glu38Ala) variant details
- p.Glu38Ala
- rs957315731
- ClinGen CA286612259
- ClinVar RCV002923489
- ClinVar RCV005019491
- Uncertain significance
- Inborn genetic diseases; Fanconi anemia; Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.07
- CADD 13.70
- ClinVar: Uncertain significance (Inborn genetic diseases; Fanconi anemia; Fanconi anemia compleme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)